A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14334661



Internal ID4336477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1710447..1716227hg38UCSC Ensembl
Innerchr12:1710497..1716177hg38UCSC Ensembl
Outerchr12:1710357..1716317hg38UCSC Ensembl
chr12:1819613..1825393hg19UCSC Ensembl
Innerchr12:1819663..1825343hg19UCSC Ensembl
Outerchr12:1819523..1825483hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385781
hg195781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628291
Supporting Variants
SamplesHG03162
Known GenesADIPOR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14334661
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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